List of diseases covered by Dilated Cardiomyopathy NGS panel

Published 23/07/2018

List of diseases covered by
Dilated Cardiomyopathy NGS panel

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
BAG3 Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic,
alpha-B crystallin-related
DES Dilated cardiomyopathy 1I
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DNAJC19 3-methylglutaconic aciduria, type V
DOLK Congenital disorder of glycosylation, type Im
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
EYA4 Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10
GATAD1 Cardiomyopathy, dilated, 2B
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LAMA4 Cardiomyopathy, dilated, 1JJ
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYPN Cardiomyopathy, dilated, 1KK; Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
RBM20 Cardiomyopathy, dilated, 1DD
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SGCD Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle, type 2F
TAZ Barth syndrome
TBX20 Atrial septal defect 4
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy;
Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

Dilated Cardiomyopathy NGS panel

Published 13/10/2017

Dilated Cardiomyopathy
NGS panel

Genes
(full
coding region):		 ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FLNC, GATAD1, JPH2, JUP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, NKX2-5, OBSCN, PRDM16, PKP2, PLN, PSEN2, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BAG3, TNNT2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Testing for at-risk family members
4. Genetic counseling

Dilated cardiomyopathy (DCM) is a progressive disease of heart muscle that is characterized by left ventricular enlargement and systolic dysfunction. Persons with DCM may be asymptomatic for a number of years. Complications usually occur later in the disease course and may include heart failure, arrhythmias, thromboembolic disease.

The disease initially manifests in adults in the fourth to sixth decade, it may also present at any age.

DCM can be categorized as acquired, syndromic, or nonsyndromic. DCM can be inherited in an autosomal dominant or X-linked manner. Most cases are inherited in an autosomal dominant manner.

References:
Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. GeneReviews® Initial Posting: July 27, 2007; Last Update: August 23, 2018.
Judge, D. P. 2009. Use of Genetics in the Clinical Evaluation of Cardiomyopathy. JAMA, 302(22), 2471.doi:10.1001/jama.2009.1787